Literature DB >> 23373023

Analysis of BRCA1 Gene Rearrangements in Breast Carcinomas by RT-PCR and ER, PR, HER2NEU Status by IHC and HPE Correlation.

Srivatsa Prakhya1, Geetha Prakash.   

Abstract

AIM: An attempt to analyze invasive ductal carcinomas of the breast, based on the histopathological sub classification and grading, the hormonal status on immunohistochemistry (IHC) and the BRCA1 gene expression.
METHODS: Fifty patients were selected from the Kancheepuram area on the basis of their admissions to the Surgical Out-Patients Wing of the Meenakshi Medical College and Hospital over a period of 3 years from 2008-2011.
RESULTS: Among the fifty patients who were selected in the case series, the most common age group was 41-60 years (23 patients). The grade 3 tumours were the commonest. An immunohistochemical evaluation of the hormone receptors revealed most of the tumours to be of the luminal subtype. BRCA1 gene mutation analysis showed that all the 50 cases of breast cancer elaborated an up-regulation of the selected base-pair fragment.
CONCLUSION: Among the various determinants of breast cancer development, this study proved that age, the histological tumour grade and the immunohistochemical analysis also formed the important factors that aided in the diagnosis of breast cancers and their classifications. Also, genetic studies could provide useful insights by helping in the determination of the presence or the absence of gene mutations, which could revolutionize the treatment. This would be possible by using gene therapy in the future.

Entities:  

Keywords:  BRCA1 gene; Breast cancer; Immunohistochemistry; RT-PCR

Year:  2012        PMID: 23373023      PMCID: PMC3552199          DOI: 10.7860/JCDR/2012/4587.2640

Source DB:  PubMed          Journal:  J Clin Diagn Res        ISSN: 0973-709X


  12 in total

1.  Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments.

Authors:  Federica Casilli; Zorika Christiana Di Rocco; Sophie Gad; Isabelle Tournier; Dominique Stoppa-Lyonnet; Thierry Frebourg; Mario Tosi
Journal:  Hum Mutat       Date:  2002-09       Impact factor: 4.878

Review 2.  Genomic rearrangements in the BRCA1 and BRCA2 genes.

Authors:  Sylvie Mazoyer
Journal:  Hum Mutat       Date:  2005-05       Impact factor: 4.878

Review 3.  BRCA1: a review of structure and putative functions.

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Journal:  Dis Markers       Date:  1998-02       Impact factor: 3.434

4.  Tumour biological features of BRCA1-induced breast and ovarian cancer.

Authors:  O T Jóhannsson; I Idvall; C Anderson; A Borg; R B Barkardóttir; V Egilsson; H Olsson
Journal:  Eur J Cancer       Date:  1997-03       Impact factor: 9.162

5.  Linkage of early-onset familial breast cancer to chromosome 17q21.

Authors:  J M Hall; M K Lee; B Newman; J E Morrow; L A Anderson; B Huey; M C King
Journal:  Science       Date:  1990-12-21       Impact factor: 47.728

6.  Do we need HER-2/neu testing for all patients with primary breast carcinoma?

Authors:  Susanne Taucher; Margaretha Rudas; Robert M Mader; Michael Gnant; Peter Dubsky; Thomas Bachleitner; Sebastian Roka; Florian Fitzal; Daniela Kandioler; Emanuel Sporn; Josef Friedl; Martina Mittlböck; Raimund Jakesz
Journal:  Cancer       Date:  2003-12-15       Impact factor: 6.860

Review 7.  The multiple nuclear functions of BRCA1: transcription, ubiquitination and DNA repair.

Authors:  Lea M Starita; Jeffrey D Parvin
Journal:  Curr Opin Cell Biol       Date:  2003-06       Impact factor: 8.382

8.  An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families. Breast Cancer Linkage Consortium.

Authors:  S A Narod; D Ford; P Devilee; R B Barkardottir; H T Lynch; S A Smith; B A Ponder; B L Weber; J E Garber; J M Birch
Journal:  Am J Hum Genet       Date:  1995-01       Impact factor: 11.025

9.  Sensitivity of HER-2/neu antibodies in archival tissue samples: potential source of error in immunohistochemical studies of oncogene expression.

Authors:  M F Press; G Hung; W Godolphin; D J Slamon
Journal:  Cancer Res       Date:  1994-05-15       Impact factor: 12.701

10.  Real-time PCR-based gene dosage assay for detecting BRCA1 rearrangements in breast-ovarian cancer families.

Authors:  M Barrois; I Bièche; S Mazoyer; M-H Champème; B Bressac-de Paillerets; R Lidereau
Journal:  Clin Genet       Date:  2004-02       Impact factor: 4.438

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